Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
124936
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome b5 domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYB5D2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047145 hsa-miR-183-5p CLASH 23622248
MIRT919521 hsa-miR-1915 CLIP-seq
MIRT919522 hsa-miR-324-5p CLIP-seq
MIRT919523 hsa-miR-3612 CLIP-seq
MIRT919524 hsa-miR-4459 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005496 Function Steroid binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0007399 Process Nervous system development IEA
GO:0012505 Component Endomembrane system IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8WUJ1
Protein name Neuferricin (Cytochrome b5 domain-containing protein 2)
Protein function Heme-binding protein which promotes neuronal but not astrocyte differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00173 Cyt-b5 39 134 Cytochrome b5-like Heme/Steroid binding domain Domain
Sequence
MLRCGGRGLLLGLAVAAAAVMAARLMGWWGPRAGFRLFIPEELSRYRGGPGDPGLYLALL
GRVYDVSSGRRHYEPGSHYSGFAGRDASRAFVTGDCSEAGLVDDVSDLSAAEMLTLHNWL
SFYEKNYVCVGRVT
GRFYGEDGLPTPALTQVEAAITRGLEANKLQLQEKQTFPPCNAEWS
SARGSRLWCSQKSGGVSRDWIGVPRKLYKPGAKEPRCVCVRTTGPPSGQMPDNPPHRNRG
DLDHPNLAEYTGCPPLAITCSFPL
Sequence length 264
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atypical Squamous Cells of the Cervix Associate 40395557
Breast Neoplasms Associate 32883354
Carcinoma Hepatocellular Associate 36881382
Carcinoma Renal Cell Associate 36530957
Carcinoma Squamous Cell Associate 40395557
Neoplasms Inhibit 40395557
Squamous Intraepithelial Lesions Associate 40395557
Uterine Cervical Neoplasms Associate 40395557
Uterine Cervicitis Inhibit 40395557